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Summary Literature (0)
DOID:0080598 - Kleefstra syndrome 2


Disease Ontology Definition:A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36.

Synonyms:

Xenbase Genes : kmt2c



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Kleefstra syndrome (is_a), autosomal dominant disease (is_a)